242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread
Using whole cosmids as probes, we have mapped 242 DMD BMD deletion breakpoints located in the major deletion hot spot of the DMD gene. Of these, 113 breakpoints were mapped more precisely to individual restriction enzyme fragments in the distal 80 kb of the 170-kb intron 44. An additional 12 breakpo...
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| creator | Blonden, L.A.J. Grootscholten, P.M. den Dunnen, J.T. Bakker, E. Abbs, S. Bobrow, M. Boehm, C. van Broeckhoven, C. Baumbach, L. Chamberlain, J. Caskey, C.T. Denton, M. Felicetti, L. Galluzi, G. Fischbeck, K.H. Francke, U. Darras, B. Gilgenkrantz, H. Kaplan, J.-C. Herrmann, F.H. Junien, C. Boileau, C. Liechti-Gallati, S. Lindlöf, M. Matsumoto, T. Niikawa, N. Müller, C.R. Poncin, J. Malcolm, S. Robertson, E. Romeo, G. Covone, A.E. Scheffer, H. Schröder, E. Schwartz, M. Verellen, C. Walker, A. Worton, R. Gillard, E. van Ommen, G.J.B. |
| description | Using whole cosmids as probes, we have mapped 242
DMD
BMD
deletion breakpoints located in the major deletion hot spot of the DMD gene. Of these, 113 breakpoints were mapped more precisely to individual restriction enzyme fragments in the distal 80 kb of the 170-kb intron 44. An additional 12 breakpoints were mapped to the adjacent 10 kb of introm 45. The breakpoints are distributed over the entire region, with no significant local variation in frequency. Furthermore, deletion sizes vary and are not influenced by the positions of the breakpoints. This argues against a predominant role of one or a few specific sequences in causing frequent rearrangements. It suggests that structural characteristics or a more widespread recombinogenic sequence makes this region so susceptible to deletion. Our study revealed several RFLPs, one of which is a 300-bp insertion/deletion polymorphism. Abnormally migrating junction fragments are found in 81% of the precisely mapped deletions and are highly valuable in the diagnosis of carrier females. |
| doi_str_mv | 10.1016/0888-7543(91)90445-K |
| format | Article |
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DMD
BMD
deletion breakpoints located in the major deletion hot spot of the DMD gene. Of these, 113 breakpoints were mapped more precisely to individual restriction enzyme fragments in the distal 80 kb of the 170-kb intron 44. An additional 12 breakpoints were mapped to the adjacent 10 kb of introm 45. The breakpoints are distributed over the entire region, with no significant local variation in frequency. Furthermore, deletion sizes vary and are not influenced by the positions of the breakpoints. This argues against a predominant role of one or a few specific sequences in causing frequent rearrangements. It suggests that structural characteristics or a more widespread recombinogenic sequence makes this region so susceptible to deletion. Our study revealed several RFLPs, one of which is a 300-bp insertion/deletion polymorphism. Abnormally migrating junction fragments are found in 81% of the precisely mapped deletions and are highly valuable in the diagnosis of carrier females.</description><identifier>ISSN: 0888-7543</identifier><identifier>EISSN: 1089-8646</identifier><identifier>DOI: 10.1016/0888-7543(91)90445-K</identifier><identifier>PMID: 1679746</identifier><language>eng</language><publisher>San Diego, CA: Elsevier Inc</publisher><subject>Biological and medical sciences ; Chromosome Deletion ; Chromosome Mapping ; Cosmids ; Diseases of striated muscles. Neuromuscular diseases ; Dystrophin - genetics ; Female ; Gene Frequency ; Genes ; Humans ; Male ; Medical sciences ; Muscular Dystrophies - genetics ; Neurology ; Polymorphism, Restriction Fragment Length ; Recombination, Genetic ; restriction fragment length polymorphism ; X Chromosome - ultrastructure</subject><ispartof>Genomics (San Diego, Calif.), 1991, Vol.10 (3), p.631-639</ispartof><rights>1991</rights><rights>1991 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c513t-584b248afd4d4b04641c9b84f374ee80f93ff466a97d408449153e2ab68f4b493</citedby><cites>FETCH-LOGICAL-c513t-584b248afd4d4b04641c9b84f374ee80f93ff466a97d408449153e2ab68f4b493</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/088875439190445K$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,4010,27900,27901,27902,65534</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19731189$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1679746$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Blonden, L.A.J.</creatorcontrib><creatorcontrib>Grootscholten, P.M.</creatorcontrib><creatorcontrib>den Dunnen, J.T.</creatorcontrib><creatorcontrib>Bakker, E.</creatorcontrib><creatorcontrib>Abbs, S.</creatorcontrib><creatorcontrib>Bobrow, M.</creatorcontrib><creatorcontrib>Boehm, C.</creatorcontrib><creatorcontrib>van Broeckhoven, C.</creatorcontrib><creatorcontrib>Baumbach, L.</creatorcontrib><creatorcontrib>Chamberlain, J.</creatorcontrib><creatorcontrib>Caskey, C.T.</creatorcontrib><creatorcontrib>Denton, M.</creatorcontrib><creatorcontrib>Felicetti, L.</creatorcontrib><creatorcontrib>Galluzi, G.</creatorcontrib><creatorcontrib>Fischbeck, K.H.</creatorcontrib><creatorcontrib>Francke, U.</creatorcontrib><creatorcontrib>Darras, B.</creatorcontrib><creatorcontrib>Gilgenkrantz, H.</creatorcontrib><creatorcontrib>Kaplan, J.-C.</creatorcontrib><creatorcontrib>Herrmann, F.H.</creatorcontrib><creatorcontrib>Junien, C.</creatorcontrib><creatorcontrib>Boileau, C.</creatorcontrib><creatorcontrib>Liechti-Gallati, S.</creatorcontrib><creatorcontrib>Lindlöf, M.</creatorcontrib><creatorcontrib>Matsumoto, T.</creatorcontrib><creatorcontrib>Niikawa, N.</creatorcontrib><creatorcontrib>Müller, C.R.</creatorcontrib><creatorcontrib>Poncin, J.</creatorcontrib><creatorcontrib>Malcolm, S.</creatorcontrib><creatorcontrib>Robertson, E.</creatorcontrib><creatorcontrib>Romeo, G.</creatorcontrib><creatorcontrib>Covone, A.E.</creatorcontrib><creatorcontrib>Scheffer, H.</creatorcontrib><creatorcontrib>Schröder, E.</creatorcontrib><creatorcontrib>Schwartz, M.</creatorcontrib><creatorcontrib>Verellen, C.</creatorcontrib><creatorcontrib>Walker, A.</creatorcontrib><creatorcontrib>Worton, R.</creatorcontrib><creatorcontrib>Gillard, E.</creatorcontrib><creatorcontrib>van Ommen, G.J.B.</creatorcontrib><title>242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread</title><title>Genomics (San Diego, Calif.)</title><addtitle>Genomics</addtitle><description>Using whole cosmids as probes, we have mapped 242
DMD
BMD
deletion breakpoints located in the major deletion hot spot of the DMD gene. Of these, 113 breakpoints were mapped more precisely to individual restriction enzyme fragments in the distal 80 kb of the 170-kb intron 44. An additional 12 breakpoints were mapped to the adjacent 10 kb of introm 45. The breakpoints are distributed over the entire region, with no significant local variation in frequency. Furthermore, deletion sizes vary and are not influenced by the positions of the breakpoints. This argues against a predominant role of one or a few specific sequences in causing frequent rearrangements. It suggests that structural characteristics or a more widespread recombinogenic sequence makes this region so susceptible to deletion. Our study revealed several RFLPs, one of which is a 300-bp insertion/deletion polymorphism. Abnormally migrating junction fragments are found in 81% of the precisely mapped deletions and are highly valuable in the diagnosis of carrier females.</description><subject>Biological and medical sciences</subject><subject>Chromosome Deletion</subject><subject>Chromosome Mapping</subject><subject>Cosmids</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Dystrophin - genetics</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genes</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Muscular Dystrophies - genetics</subject><subject>Neurology</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Recombination, Genetic</subject><subject>restriction fragment length polymorphism</subject><subject>X Chromosome - ultrastructure</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1v1DAQhi1EVZaWfwCSLyB6CIyTiT8uSNAvUFvBAQ6cLMcZF9NsstjZov57vN0VvcHJkt9nXs08jD0X8EaAkG9Ba12pFpvXRhwZQGyri0dsIUCbSkuUj9niL_KEPc35JwCYRtf7bF9IZRTKBfteY80_JHI3qymOc-Zx5PMP4jVAddPxngaa4zRWqzSNxL_UwBNdlw8-hXvu5OqEX1OJXCL-Oxb-judV6esP2V5wQ6Znu_eAfTs7_Xr8sbr8fP7p-P1l5VvRzFWrsatRu9Bjjx2gROFNpzE0Cok0BNOEgFI6o3oEjWhE21DtOqkDdmiaA_Zq21tW_LWmPNtlzJ6GwY00rbNVNRiBqP4LCgkISkIBcQv6NOWcKNhVikuX7qwAu1FvN17txqs1wt6rtxdl7MWuf90tqX8Y2rou-ctd7rJ3Q0hu9DE_YEY1QujNQe-2HBVrt5GSzT7S6KmPifxs-yn-e5E_pOeccg</recordid><startdate>1991</startdate><enddate>1991</enddate><creator>Blonden, L.A.J.</creator><creator>Grootscholten, P.M.</creator><creator>den Dunnen, J.T.</creator><creator>Bakker, E.</creator><creator>Abbs, S.</creator><creator>Bobrow, M.</creator><creator>Boehm, C.</creator><creator>van Broeckhoven, C.</creator><creator>Baumbach, L.</creator><creator>Chamberlain, J.</creator><creator>Caskey, C.T.</creator><creator>Denton, M.</creator><creator>Felicetti, L.</creator><creator>Galluzi, G.</creator><creator>Fischbeck, K.H.</creator><creator>Francke, U.</creator><creator>Darras, B.</creator><creator>Gilgenkrantz, H.</creator><creator>Kaplan, J.-C.</creator><creator>Herrmann, F.H.</creator><creator>Junien, C.</creator><creator>Boileau, C.</creator><creator>Liechti-Gallati, S.</creator><creator>Lindlöf, M.</creator><creator>Matsumoto, T.</creator><creator>Niikawa, N.</creator><creator>Müller, C.R.</creator><creator>Poncin, J.</creator><creator>Malcolm, S.</creator><creator>Robertson, E.</creator><creator>Romeo, G.</creator><creator>Covone, A.E.</creator><creator>Scheffer, H.</creator><creator>Schröder, E.</creator><creator>Schwartz, M.</creator><creator>Verellen, C.</creator><creator>Walker, A.</creator><creator>Worton, R.</creator><creator>Gillard, E.</creator><creator>van Ommen, G.J.B.</creator><general>Elsevier Inc</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>1991</creationdate><title>242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread</title><author>Blonden, L.A.J. ; Grootscholten, P.M. ; den Dunnen, J.T. ; Bakker, E. ; Abbs, S. ; Bobrow, M. ; Boehm, C. ; van Broeckhoven, C. ; Baumbach, L. ; Chamberlain, J. ; Caskey, C.T. ; Denton, M. ; Felicetti, L. ; Galluzi, G. ; Fischbeck, K.H. ; Francke, U. ; Darras, B. ; Gilgenkrantz, H. ; Kaplan, J.-C. ; Herrmann, F.H. ; Junien, C. ; Boileau, C. ; Liechti-Gallati, S. ; Lindlöf, M. ; Matsumoto, T. ; Niikawa, N. ; Müller, C.R. ; Poncin, J. ; Malcolm, S. ; Robertson, E. ; Romeo, G. ; Covone, A.E. ; Scheffer, H. ; Schröder, E. ; Schwartz, M. ; Verellen, C. ; Walker, A. ; Worton, R. ; Gillard, E. ; van Ommen, G.J.B.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c513t-584b248afd4d4b04641c9b84f374ee80f93ff466a97d408449153e2ab68f4b493</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>Biological and medical sciences</topic><topic>Chromosome Deletion</topic><topic>Chromosome Mapping</topic><topic>Cosmids</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>Dystrophin - genetics</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Genes</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Muscular Dystrophies - genetics</topic><topic>Neurology</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Recombination, Genetic</topic><topic>restriction fragment length polymorphism</topic><topic>X Chromosome - ultrastructure</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Blonden, L.A.J.</creatorcontrib><creatorcontrib>Grootscholten, P.M.</creatorcontrib><creatorcontrib>den Dunnen, J.T.</creatorcontrib><creatorcontrib>Bakker, E.</creatorcontrib><creatorcontrib>Abbs, S.</creatorcontrib><creatorcontrib>Bobrow, M.</creatorcontrib><creatorcontrib>Boehm, C.</creatorcontrib><creatorcontrib>van Broeckhoven, C.</creatorcontrib><creatorcontrib>Baumbach, L.</creatorcontrib><creatorcontrib>Chamberlain, J.</creatorcontrib><creatorcontrib>Caskey, C.T.</creatorcontrib><creatorcontrib>Denton, M.</creatorcontrib><creatorcontrib>Felicetti, L.</creatorcontrib><creatorcontrib>Galluzi, G.</creatorcontrib><creatorcontrib>Fischbeck, K.H.</creatorcontrib><creatorcontrib>Francke, U.</creatorcontrib><creatorcontrib>Darras, B.</creatorcontrib><creatorcontrib>Gilgenkrantz, H.</creatorcontrib><creatorcontrib>Kaplan, J.-C.</creatorcontrib><creatorcontrib>Herrmann, F.H.</creatorcontrib><creatorcontrib>Junien, C.</creatorcontrib><creatorcontrib>Boileau, C.</creatorcontrib><creatorcontrib>Liechti-Gallati, S.</creatorcontrib><creatorcontrib>Lindlöf, M.</creatorcontrib><creatorcontrib>Matsumoto, T.</creatorcontrib><creatorcontrib>Niikawa, N.</creatorcontrib><creatorcontrib>Müller, C.R.</creatorcontrib><creatorcontrib>Poncin, J.</creatorcontrib><creatorcontrib>Malcolm, S.</creatorcontrib><creatorcontrib>Robertson, E.</creatorcontrib><creatorcontrib>Romeo, G.</creatorcontrib><creatorcontrib>Covone, A.E.</creatorcontrib><creatorcontrib>Scheffer, H.</creatorcontrib><creatorcontrib>Schröder, E.</creatorcontrib><creatorcontrib>Schwartz, M.</creatorcontrib><creatorcontrib>Verellen, C.</creatorcontrib><creatorcontrib>Walker, A.</creatorcontrib><creatorcontrib>Worton, R.</creatorcontrib><creatorcontrib>Gillard, E.</creatorcontrib><creatorcontrib>van Ommen, G.J.B.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Human Genome Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Genomics (San Diego, Calif.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Blonden, L.A.J.</au><au>Grootscholten, P.M.</au><au>den Dunnen, J.T.</au><au>Bakker, E.</au><au>Abbs, S.</au><au>Bobrow, M.</au><au>Boehm, C.</au><au>van Broeckhoven, C.</au><au>Baumbach, L.</au><au>Chamberlain, J.</au><au>Caskey, C.T.</au><au>Denton, M.</au><au>Felicetti, L.</au><au>Galluzi, G.</au><au>Fischbeck, K.H.</au><au>Francke, U.</au><au>Darras, B.</au><au>Gilgenkrantz, H.</au><au>Kaplan, J.-C.</au><au>Herrmann, F.H.</au><au>Junien, C.</au><au>Boileau, C.</au><au>Liechti-Gallati, S.</au><au>Lindlöf, M.</au><au>Matsumoto, T.</au><au>Niikawa, N.</au><au>Müller, C.R.</au><au>Poncin, J.</au><au>Malcolm, S.</au><au>Robertson, E.</au><au>Romeo, G.</au><au>Covone, A.E.</au><au>Scheffer, H.</au><au>Schröder, E.</au><au>Schwartz, M.</au><au>Verellen, C.</au><au>Walker, A.</au><au>Worton, R.</au><au>Gillard, E.</au><au>van Ommen, G.J.B.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>1991</date><risdate>1991</risdate><volume>10</volume><issue>3</issue><spage>631</spage><epage>639</epage><pages>631-639</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>Using whole cosmids as probes, we have mapped 242
DMD
BMD
deletion breakpoints located in the major deletion hot spot of the DMD gene. Of these, 113 breakpoints were mapped more precisely to individual restriction enzyme fragments in the distal 80 kb of the 170-kb intron 44. An additional 12 breakpoints were mapped to the adjacent 10 kb of introm 45. The breakpoints are distributed over the entire region, with no significant local variation in frequency. Furthermore, deletion sizes vary and are not influenced by the positions of the breakpoints. This argues against a predominant role of one or a few specific sequences in causing frequent rearrangements. It suggests that structural characteristics or a more widespread recombinogenic sequence makes this region so susceptible to deletion. Our study revealed several RFLPs, one of which is a 300-bp insertion/deletion polymorphism. Abnormally migrating junction fragments are found in 81% of the precisely mapped deletions and are highly valuable in the diagnosis of carrier females.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>1679746</pmid><doi>10.1016/0888-7543(91)90445-K</doi><tpages>9</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0888-7543 |
| ispartof | Genomics (San Diego, Calif.), 1991, Vol.10 (3), p.631-639 |
| issn | 0888-7543 1089-8646 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_72091447 |
| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Biological and medical sciences Chromosome Deletion Chromosome Mapping Cosmids Diseases of striated muscles. Neuromuscular diseases Dystrophin - genetics Female Gene Frequency Genes Humans Male Medical sciences Muscular Dystrophies - genetics Neurology Polymorphism, Restriction Fragment Length Recombination, Genetic restriction fragment length polymorphism X Chromosome - ultrastructure |
| title | 242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread |
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